Canonical Allele Identifier: CA462114142

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 2804680
• ClinVar RCV Id: RCV003684214
• MyVariant Identifiers: chr8:g.87588133T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575905T>G , CM000670.2:g.86575905T>G	GRCh38
NC_000008.10:g.87588133T>G , CM000670.1:g.87588133T>G	GRCh37
NC_000008.9:g.87657249T>G	NCBI36
NG_016980.1:g.172771A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2329A>C MANE Select	ENSP00000316605.5:p.Arg777=
ENST00000681546.1:n.2149A>C
ENST00000681746.1:c.*740A>C	ENSP00000505959.1:n.*740A>C
ENST00000320005.5:c.2329A>C	ENSP00000316605.5:p.Arg777=
ENST00000517327.5:c.276+2784A>C	ENSP00000428329.1:n.276+2784A>C
NM_019098.4:c.2329A>C	NP_061971.3:p.Arg777=
XM_011517138.1:c.1915A>C	XP_011515440.1:p.Arg639=
XM_011517138.2:c.1915A>C	XP_011515440.1:p.Arg639=
NM_019098.5:c.2329A>C MANE Select	NP_061971.3:p.Arg777=